I11S (p.Ile11Ser) variant of MFN2 (Mitofusin-2)
I11S (p.Ile11Ser) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I11S (p.Ile11Ser) variant details
- p.Ile11Ser
- rs777625403
- ClinGen CA598725
- ClinVar RCV000658490
- ExAC rs777625403
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available